DisGeNET - a database of gene-disease associations

List of associated variants

Epithelial ovarian cancer, C0677886

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs8170	BABAM1 ; USHBP1	0.724	0.160	19	17278895	synonymous variant	G/A	snv	0.15	0.18	13
rs7572644	BABAM2	0.925	0.120	2	28097166	intron variant	T/C	snv		0.21	2
rs9609538	BPIFC ; RTCB	0.925	0.120	22	32413845	upstream gene variant	T/C	snv		0.34	2
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs1799950	BRCA1	0.752	0.240	17	43094464	missense variant	T/C	snv	4.7E-02	4.6E-02	13
rs80357796	BRCA1	0.752	0.240	17	43094464	frameshift variant	T/-	del			11
rs80357138	BRCA1	0.763	0.200	17	43094776	missense variant	C/T	snv	8.0E-06		9
rs144848	BRCA2	0.653	0.440	13	32332592	missense variant	A/C	snv	0.28	0.23	29
rs1983383	CAPN13	0.925	0.120	2	30754766	intron variant	C/A	snv		0.39	2
rs41324349	CARD11	0.925	0.120	7	2907529	intron variant	G/A;C;T	snv			2
rs3834129	CASP8	0.627	0.560	2	201232809	upstream gene variant	AGTAAG/-	del		0.48	38
rs6704688	CASP8	0.882	0.160	2	201241309	non coding transcript exon variant	C/A;T	snv			3
rs3769827	CASP8	0.925	0.120	2	201237962	intron variant	A/G	snv		0.42	2
rs3212986	CD3EAP ; ERCC1	0.620	0.400	19	45409478	stop gained	C/A;G;T	snv	0.29; 4.3E-06; 4.3E-06		42
rs17507066	CHEK2	0.925	0.120	22	28696732	intron variant	C/T	snv		7.0E-02	2
rs11782652	CHMP4C	0.851	0.120	8	81741409	intron variant	A/G	snv		6.6E-02	4
rs1413299	COL15A1	0.925	0.120	9	98998959	intron variant	G/A;T	snv			2
rs561841834	COL18A1	0.925	0.120	21	45468531	synonymous variant	C/T	snv	8.0E-06		2
rs114972508	EGFR ; LOC105375284	0.925	0.120	7	55020815	intron variant	T/C	snv		1.4E-02	2
rs1265794840	ERCC2	0.851	0.160	19	45365131	missense variant	C/T	snv		7.0E-06	6
rs851797	EXO1	0.752	0.240	1	241889740	3 prime UTR variant	A/G	snv		0.72	13
rs7053448	F8	0.925	0.120	X	154964936	intron variant	T/C	snv		0.15	2
rs7058826	F8	0.925	0.120	X	154966714	intron variant	C/T	snv	0.12	0.14	2
rs6165	FSHR	0.724	0.160	2	48963902	missense variant	C/G;T	snv	4.0E-06; 0.55		14